Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of …

L Maione, AA Dwyer, B Francou… - European Journal of …, 2018 - academic.oup.com
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism

V Vezzoli, F Hrvat, G Goggi, S Federici… - Frontiers in …, 2023 - frontiersin.org
Distinguishing between self limited delayed puberty (SLDP) and congenital
hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and …

Advances in genetic diagnosis of Kallmann syndrome and genetic interruption

Y Liu, X Zhi - Reproductive Sciences, 2022 - Springer
Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic
heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the …

Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH

M Kałużna, B Budny, M Rabijewski, A Dubiel… - Frontiers in …, 2024 - frontiersin.org
Introduction Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and
genetically heterogeneous disorder. Deleterious variants in over 50 genes have been …

Replacement of male mini-puberty

DT Papadimitriou, D Chrysis, G Nyktari… - Journal of the …, 2019 - academic.oup.com
Context Clinical management of congenital hypogonadotropic hypogonadism (CHH)
remains a challenge in pediatric endocrinology. Objective To investigate whether daily …

[HTML][HTML] The differential roles for neurodevelopmental and neuroendocrine genes in sha** GnRH neuron physiology and deficiency

R Oleari, V Massa, A Cariboni, A Lettieri - International Journal of …, 2021 - mdpi.com
Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

Genetic analysis of patients with congenital hypogonadotropic hypogonadism: a case series

R Cannarella, C Gusmano, RA Condorelli… - International Journal of …, 2023 - mdpi.com
Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare
genetic disorder with variable penetrance and a complex inheritance pattern. Consequently …

Recent advances in understanding and managing Kallmann syndrome

R Quinton, R Maggi - Faculty Reviews, 2021 - pmc.ncbi.nlm.nih.gov
Many of the recent advances in our understanding of human reproductive biology and its
genetic basis have arisen directly via the genetic investigation of patients with Kallmann …

Current concepts surrounding neonatal hormone therapy for boys with congenital hypogonadotropic hypogonadism

DS Swee, R Quinton - Expert Review of Endocrinology & …, 2022 - Taylor & Francis
Introduction Congenital hypogonadotropic hypogonadism (CHH) is a genetic disorder of
reproduction and development, characterized by deficient gonadotropin-releasing hormone …